Navegando por Palavras-chave "Osteopetrosis"

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    Osteodistrofias raras do osso temporal
    (ABORL-CCF Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial, 2005-04-01) Antunes, Marcos Luiz [UNIFESP]; Testa, Jose Ricardo Gurgel [UNIFESP]; Frazatto, Ricardo [UNIFESP]; Barberi, Jose Antonio Ferreira [UNIFESP]; Silva, Rogério Fernandes Nunes da [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Temporal bone osteodysplasia can produce many different symptoms, such as involvement restricted to the temporal bone or impairment of other bones. We consider, in this study two entities that are rare osteodysplasia cases, which are osteopetrosis and Camurati-Engelmann disease, the latter being extremely rare. We present two cases of benign form of osteopetrosis (Albers-Schulenburg's disease), a patient of 11 years old and another one of 48 years old, both male, and a patient of 28 years old, female, with Camurati-Engelmann's disease. The facial palsy was a manifestation in two of the patients. We discuss some aspects about the clinical manifestations, radiological findings, as well as differential diagnostic and therapy in view of the complications of the diseases.
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    Retardo de desenvolvimento associado à Osteopetrose
    (Sociedade Brasileira de Endocrinologia e Metabologia, 1998-12-01) Khawali, Cristina [UNIFESP]; Rezende, Carmen A.c. [UNIFESP]; Lazaretti-Castro, Marise [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Osteopetrosis is a rare genetic disease, caracterized by marked radiodensity of the bones throughout the skeleton. Heterogenous clinical, biochemical, and histological features suggest that the disease is multigenic. We will describe a case with severe growth delay and bone fractures. EDO, 19 years and 9 months old, that came to us due to a skeleton alteration and growth failure. His puberty begun at 18 years old, with slow progress. Six months ago, after falling from his own high he broke his right forearm. He was 141,5 em high and weighted 38,5 kg, with bone age at 13 years and 6 months. The skeleton examination showed hyperdensity of the bones with typical alteration observed in osteopetrosis with signs of fractures in ulna and femur both on the right. The bone density were on lumbar spine and femural neck respectively 10,65 and 15,55 SD higher than the average for his own age. The dosages of the hormones showed total testosterone levels below normal for chronological age (245 ng/dl); normal basal and stimulated gonadotropins levels, GH responsive to hypoglycemia and insulin-like growth factor-I (IGF-I) level low for puberal stage. The plasma calcium (Ca), phosphorus (P), alcaline phosphatase (FA) and intact parathormone (PTH) levels were on the normal range. The incidence of osteopetrosis in our country Is very low and its association with short stature and delayed puberty is well known. The dysplasic bone associated to chronic anemia and repeated infections present mainly in the severe forms of the disease are probably the major causes for the delayed development.